Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

Muscle Nerve. 1998 Nov;21(11):1493-501. doi: 10.1002/(sici)1097-4598(199811)21:11<1493::aid-mus19>3.0.co;2-1.

Abstract

We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7+/-3.1 years (mean+/-SD), and loss of ambulance occurred at 38.5+/-2.1 years. Muscle atrophy was predominant in the pelvic and shoulder girdles, and proximal limb muscles. Muscle pathology revealed dystrophic changes. In two families, an identical G to C mutation at position 1080 the in calpain 3 gene was identified, and a frameshift mutation (1796insA) was found in the third family. The former mutation results in a W360R substitution in the proteolytic site of calpain 3, and the latter in a deletion of the Ca2+-binding domain.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Biopsy
  • Calpain / genetics*
  • Child
  • DNA Mutational Analysis
  • Exons
  • Family Health*
  • Female
  • Haplotypes
  • Humans
  • Isoenzymes / genetics*
  • Japan
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Muscle Fibers, Skeletal / chemistry
  • Muscle Fibers, Skeletal / pathology
  • Muscle Fibers, Skeletal / ultrastructure
  • Muscle Proteins / analysis
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / enzymology*
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophies / pathology*
  • Mutation
  • Pedigree
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Isoenzymes
  • Muscle Proteins
  • CAPN3 protein, human
  • Calpain